Phenotype #0000346981

Individual ID	00458550
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	NEDHBA
Phenotype details	see paper; ..., pregnancy unremarkable, birth at term, weight 3.5kg (83th%), microcephaly; height 129.6cm (75th), weight 44kg (98th), OFC 49.5cm (-1.3); no failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; 2.7y-walk; delayed speech, individual words, no sentences; strabismus, no hearing loss; dysmorphic features, synophrys, prominent lashes, low anterior hair line, retrognathia, left-sided preauricular tag; central tone hypotonia; peripheral tone hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autism, attentional and behavioral difficulties; MRI 9y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small "slit-like" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-18 16:32:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD